Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl‐coenzyme A thiolase gene in two Swiss patients with CRM‐negative β‐ketothiolase deficiency

Autor:	Takashi Hashimoto, Xiang-Qian Song, Claude Bachmann, Seiji Yamaguchi, Toshiyuki Fukao, Tadao Orii, Jean-Marie Matthieu, Naomi Kondo
Rok vydání:	1997
Předmět:	Genetics Acetoacetyl Coenzyme A thiolase Identification (biology) Biology Gene Genetics (clinical) β ketothiolase Frameshift mutation
Zdroj:	Human Mutation. 9:277-279
ISSN:	1098-1004 1059-7794
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e66157f66ad5f280b57df3ea871cc1 https://doi.org/10.1002/(sici)1098-1004(1997)9:3<277::aid-humu11>3.0.co Zobrazit plný text záznamu Plný text